Clinical Features

Clinical features may vary in different individuals as the spectrum would vary. Fingertips appear bulbous and are associated with shortening of the distalphalanges and pseudo clubbing.

Raynaud phenomenon [discoloration of the fingers and/or the toes after exposure to changes in temperature (cold or hot) or emotional events] may occur.

Sclerodactyly [localized thickening and tightness of the skin of the fingers or toes] and papular fibrotic lesions on the wrists and dorsa of the hands may occur. Progressive destruction of the bone produces peg-shaped phalanges.

Systemic symptoms would vary with the causative disease but may include fatigue, myalgias, cold hands and feet, paresthesias, reduced libido, and difficulty with hand grip.

Raynaud phenomenon is usually the first symptom to occur in acroosteolysis secondary to PVC exposure..

A rare autosomal dominant variant, sometimes called Band Acroosteolysis, is associated with Hadju-Cheney Syndrome [see below], caused by a NOTCH2 mutation.

Symptoms of Hadju-Cheney Syndrome can include short stature, generalized osteoporosis, bowing of the long bones, and vertebrae anomalies.

Imaging

Plain radiography is the gold standard for the detection of acro-osteolysis.

. In transverse acroosteolysis, there are linear osteolytic bands in the distalphalanx, while longitudinal acroosteolysis shows “whittling” or penciling of the tufts resulting from their gradual resorption. Both types lead to acronecrosis [resorption of tufts and distal part of fingers].

The terminal tuft is most commonly affected but the shaft of the distalphalanx can also be affected in a few conditions.

Disease Association/Causes

Acroosteolysis can occur in various diseases, list of which is given below.

Multiple digits

Terminal tuft resorption

Phenytoin (occurs in infants of epileptic mothers treated with phenytoin)

Ergot poisoning/abuse

insensitivity to pain, e.g. leprosy

Juvenile chronic arthritis

Dermatomyositis

Vascular occlusion

Reactive arthritis

Pityriasis rubra pilaris

Midshaft resorption

Polyvinyl chloride exposure

Primary acro-osteolysis or Hajdu-Cheney syndrome

Hyperparathyroidism (also causes terminal tuft resorption)

Single digit

Epidermal inclusion cyst

Glomus tumour of digit

Primary Acro-osteolysis or Hajdu-Cheney Syndrome

Hajdu-Cheney syndrome is a very rare connective tissue disorder mostly diagnosed in adulthood or adolescence with the presence of a positive family history. with only 50 cases reported in the literature . It is also called acro-osteolysis dominant type.

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